acute intermittent porphyria

Summary

Summary: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

Top Publications

  1. ncbi Acute intermittent porphyria
    Ariane L Herrick
    University of Manchester, Rheumatic Diseases Centre, Hope Hospital, Salford M6 8HD, UK
    Best Pract Res Clin Gastroenterol 19:235-49. 2005
  2. ncbi Nerve function and dysfunction in acute intermittent porphyria
    Cindy S Y Lin
    Prince of Wales Clinical School, Prince of Wales Medical Research Institute, School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia
    Brain 131:2510-9. 2008
  3. ncbi Effects of administration of antioxidants in acute intermittent porphyria
    S Thunell
    Porphyria Centre Sweden, Stockholm
    Eur J Clin Chem Clin Biochem 35:427-33. 1997
  4. ncbi Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation
    J To-Figueras
    Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain
    J Inherit Metab Dis 29:580-5. 2006
  5. ncbi An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
    Richard J Hift
    Lennox Eales Porphyria Laboratories, Department of Medicine and South African Medical Research Council, University of Cape Town, Liver Research Center, Cape Town, South Africa
    Medicine (Baltimore) 84:48-60. 2005
  6. ncbi Structural insight into acute intermittent porphyria
    Gaojie Song
    National Laboratory of Biomacromolecules, Institute of Biophysics, 15 Datun Lu, Beijing 100101, China
    FASEB J 23:396-404. 2009
  7. ncbi Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria
    Raj Gill
    Centre for Amyloidosis and Acute Phase Proteins, Department of Medicine, UCL Medical School, Rowland Hill Street, London NW3 2PF, UK
    Biochem J 420:17-25. 2009
  8. pmc Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients
    M M Schuurmans
    , , Kantonsspital, Basel, Switzerland
    Mol Med 7:535-42. 2001
  9. pmc Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
    H Puy
    Centre Francais des Porphyries, INSERM U 409, Hopital Louis Mourier, Colombes, France
    Am J Hum Genet 60:1373-83. 1997
  10. ncbi A large deletion on chromosome 11 in acute intermittent porphyria
    Elena Di Pierro
    Department of Internal Medicine, Maggiore Policlinico, Mangiagalli and Regina Elena, Foundation IRCCS, University of Milan, Italy
    Blood Cells Mol Dis 37:50-4. 2006

Research Grants

  1. Acute Hepatic Porphyrias: Pathogenesis &Treatment
    Makiko Yasuda; Fiscal Year: 2013
  2. Effect of Heme on mRNA and miRNA Profiles
    Herbert L Bonkovsky; Fiscal Year: 2013
  3. PORPHYRIA AND HUMAN HEME BIOSYNTHESIS
    Robert J Desnick; Fiscal Year: 2010
  4. The role of GABA-mimetic metabolites in neurodevelopmental and neuropsychiatric d
    Joseph A Gogos; Fiscal Year: 2013
  5. Phase 2 Study of Hemin for Treatment and Prevention of Porphyria Attacks
    KARL ELMO ANDERSON; Fiscal Year: 2013
  6. PORPHYRIN AND CORRINOID BIOSYNTHESIS
    Alastair Scott; Fiscal Year: 2006
  7. REGULATION OF HEPATIC HEME METABOLISM
    HERBERT BONKOVSKY; Fiscal Year: 2009
  8. Aberrant VEGF RNA Stability in Amyotrophic Lateral Sclerosis
    Peter King; Fiscal Year: 2008
  9. CLINICAL RESEARCH EDUCATION PROGRAM AT UTMB
    Karl Anderson; Fiscal Year: 2004

Detail Information

Publications212 found, 100 shown here

  1. ncbi Acute intermittent porphyria
    Ariane L Herrick
    University of Manchester, Rheumatic Diseases Centre, Hope Hospital, Salford M6 8HD, UK
    Best Pract Res Clin Gastroenterol 19:235-49. 2005
    b>Acute intermittent porphyria (AIP) is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain...
  2. ncbi Nerve function and dysfunction in acute intermittent porphyria
    Cindy S Y Lin
    Prince of Wales Clinical School, Prince of Wales Medical Research Institute, School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia
    Brain 131:2510-9. 2008
    b>Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by mutations of the porphobilinogen deaminase gene...
  3. ncbi Effects of administration of antioxidants in acute intermittent porphyria
    S Thunell
    Porphyria Centre Sweden, Stockholm
    Eur J Clin Chem Clin Biochem 35:427-33. 1997
    ..question of free radical involvement in acute porphyric crisis, antioxidants were administered to two acute intermittent porphyria patients with long-standing recurrent attacks...
  4. ncbi Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation
    J To-Figueras
    Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic i Provincial, IDIBAPS, University of Barcelona, Barcelona, Spain
    J Inherit Metab Dis 29:580-5. 2006
    b>Acute intermittent porphyria (AIP) is a metabolic disease with a variable prevalence among different countries. In some areas of southern Europe it remains to be fully evaluated...
  5. ncbi An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
    Richard J Hift
    Lennox Eales Porphyria Laboratories, Department of Medicine and South African Medical Research Council, University of Cape Town, Liver Research Center, Cape Town, South Africa
    Medicine (Baltimore) 84:48-60. 2005
    ..South Africa; 25 attacks in 10 patients with variegate porphyria and 87 attacks in 14 patients with acute intermittent porphyria. The remaining patient experienced more than 100 sequential, severe, and poorly remitting attacks, ..
  6. ncbi Structural insight into acute intermittent porphyria
    Gaojie Song
    National Laboratory of Biomacromolecules, Institute of Biophysics, 15 Datun Lu, Beijing 100101, China
    FASEB J 23:396-404. 2009
    b>Acute intermittent porphyria (AIP), an inherited disease of heme biosynthesis, is one of the most common types of porphyria...
  7. ncbi Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria
    Raj Gill
    Centre for Amyloidosis and Acute Phase Proteins, Department of Medicine, UCL Medical School, Rowland Hill Street, London NW3 2PF, UK
    Biochem J 420:17-25. 2009
    Mutations in the human PBGD (porphobilinogen deaminase) gene cause the inherited defect AIP (acute intermittent porphyria)...
  8. pmc Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients
    M M Schuurmans
    , , Kantonsspital, Basel, Switzerland
    Mol Med 7:535-42. 2001
    BACKGROUND: Acute intermittent porphyria (AIP) is an inherited disorder in the heme biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase...
  9. pmc Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria
    H Puy
    Centre Francais des Porphyries, INSERM U 409, Hopital Louis Mourier, Colombes, France
    Am J Hum Genet 60:1373-83. 1997
    b>Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias...
  10. ncbi A large deletion on chromosome 11 in acute intermittent porphyria
    Elena Di Pierro
    Department of Internal Medicine, Maggiore Policlinico, Mangiagalli and Regina Elena, Foundation IRCCS, University of Milan, Italy
    Blood Cells Mol Dis 37:50-4. 2006
    b>Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway...
  11. ncbi Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes
    E Sardh
    Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
    Cell Mol Biol (Noisy-le-grand) 55:66-71. 2009
    Porphyrin precursors and porphyrins were measured in three patients with recurrent attacks of acute intermittent porphyria and end-stage renal disease (ESRD): two patients on hemodialysis and one on peritoneal dialysis...
  12. ncbi Liver transplantation as a cure for acute intermittent porphyria
    Zahir F Soonawalla
    Liver Transplant Unit, Nuffield House, Queen Elizabeth Hospital, Birmingham B15 2TH, UK
    Lancet 363:705-6. 2004
    b>Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased hepatic production of porphyrin precursors, resulting in long-term damage, poor quality of life, and shortened ..
  13. ncbi Acute intermittent porphyria and chronic renal failure
    J T Marsden
    Department of Clinical Biochemistry, King s College Hospital, London, UK
    Clin Nephrol 69:339-46. 2008
    ..We have studied a series of 9 patients with acute intermittent porphyria (AIP) attending the Porphyria Clinic at King's College Hospital, London, UK, who were referred to the ..
  14. ncbi Combined liver and kidney transplantation in acute intermittent porphyria
    Staffan Wahlin
    Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
    Transpl Int 23:e18-21. 2010
    We report two patients with acute intermittent porphyria (AIP) who were successfully treated with combined liver and kidney transplantation...
  15. ncbi Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid
    E J Bechara
    Departamento de Bioquimica, Universidade de Sao Paulo, Brasil
    Braz J Med Biol Res 29:841-51. 1996
    ..g., lead poisoning, acute intermittent porphyria (AIP), tyrosinosis)...
  16. ncbi Pregnancy with acute intermittent porphyria: a case report and review of literature
    Neelam Aggarwal
    Department of Obstetrics and Gynecology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
    J Obstet Gynaecol Res 28:160-2. 2002
    b>Acute intermittent porphyria (AIP) is an inherited disorder characterized by partial defects in the heme biosynthetic pathway...
  17. ncbi Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria
    Nurit Grunberg-Etkovitz
    Life Science Faculty, Bar Ilan University, Ramat Gan 52900, Israel
    Biochim Biophys Acta 1762:819-27. 2006
    b>Acute intermittent porphyria (AIP) is a neuropathic disease caused by a dominant inherited deficiency in porphobilinogen deaminase (PBGD)...
  18. ncbi Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria?
    Janice Onuki
    Departamento de Bioquimica, Instituto de Quimica, USP, Sao Paulo, Brasil
    Cell Mol Biol (Noisy-le-grand) 48:17-26. 2002
    5-Aminolevulinic acid (ALA) is a heme precursor that accumulates in acute intermittent porphyria (AIP) due to enzymatic deficiencies in the heme biosynthetic pathway Its accumulation has been associated with several symptoms, such as ..
  19. ncbi Spectrum of emergency department presentation in patients of acute intermittent porphyria: experience from a North Indian tertiary care center
    Susheel Kumar
    Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India
    Neurol India 58:95-8. 2010
    Of the porphyrias, acute intermittent porphyria (AIP) is the most frequently encountered porphyria. The clinical characteristics of thirteen patients of AIP who presented to the Emergency Department were analyzed...
  20. ncbi Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
    Raili Kauppinen
    Department of Medicine, Division of Endocrinology, University Hospital of Helsinki, 00029 HUS Helsinki, Finland
    Clin Chem 48:1891-900. 2002
    b>Acute intermittent porphyria (AIP) is a metabolic disease with clinical manifestations that mimic other abdominal, neurologic, or mental crises...
  21. ncbi [Acute intermittent porphyria and chronic transaminase elevation]
    M Yolanda Raigal Martín
    Medicina Familiar y Comunitaria, Area 5, Madrid, Spain
    Gastroenterol Hepatol 31:225-8. 2008
    b>Acute intermittent porphyria is an autosomal dominant inherited disorder resulting from a deficiency of porphobilinogen deaminase activity, the third enzyme in the heme biosynthesis pathway...
  22. ncbi Neurological manifestations of acute intermittent porphyria
    E Pischik
    Department of Medicine, Division of Endocrinology, Porphyria Research Unit, University Central Hospital of Helsinki, Helsinki, Finland
    Cell Mol Biol (Noisy-le-grand) 55:72-83. 2009
    b>Acute intermittent porphyria (AIP) is an inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase in the haem biosynthesis...
  23. ncbi Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden
    C Andersson
    Department of Family Medicine, University Hospital, Umea, Sweden
    J Intern Med 254:176-83. 2003
    To describe the clinical expression of acute intermittent porphyria (AIP) in women, their use of exogenous sex hormones, and the effects on AIP.
  24. pmc Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W
    Kjersti Tjensvoll
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
    Dis Markers 19:41-6. 2003
    b>Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD)...
  25. ncbi Remifentanil and acute intermittent porphyria
    M Durmus
    Eur J Anaesthesiol 19:839-40. 2002
  26. ncbi Gabapentin and propofol for treatment of status epilepticus in acute intermittent porphyria
    C K Pandey
    J Postgrad Med 49:285. 2003
  27. ncbi Acute intermittent porphyria as a cause of acute respiratory failure
    Abraham Oomman
    Department of Medicine, JIPMER, Pondicherry
    J Indian Med Assoc 100:44, 46. 2002
    A fatal case of acute intermittent porphyria in a 22 years old Indian male is reported. He presented with abdominal pain and constipation, subsequently developed status epilepticus, acute respiratory failure and quadriparesis...
  28. ncbi Diagnostic dilemmas in acute intermittent porphyria. A case report
    Vembu Periasamy
    Department of Neurology, Ibn Sina Hospital, PO Box 25427, 13115 Safat, Kuwait
    Med Princ Pract 11:108-11. 2002
    To present the importance of early diagnosis of acute intermittent porphyria (AIP) in patients with atypical presentation and discuss the diagnostic problems encountered in this case.
  29. ncbi Renal transplantation in a case of acute intermittent porphyria
    Carl Warholm
    Karolinska Institute, Danderyd Hospital, SE 182 88 Danderyd, Sweden
    J Clin Pharmacol 43:1158-60. 2003
    b>Acute intermittent porphyria (AIP) results from a deficiency of the porphobilinogen deaminase enzyme of heme biosynthesis. The disease is exacerbated by a wide variety of drugs...
  30. ncbi Melatonin and epileptic seizures in patients with acute intermittent porphyria
    I Bylesjo
    Department of Medicine, Skellefteå Hospital, SE 93186 Skellefteå, Sweden
    Epileptic Disord 2:203-8. 2000
    The objective of this study was to assess melatonin production in patients with acute intermittent porphyria (AIP), with and without known epileptic seizures, as a guide to whether melatonin may have anti-convulsive or pro-convulsive ..
  31. ncbi Acute intermittent porphyria as a cause of respiratory failure: case report
    Folkert W Asselbergs
    Department of Cardiology, University Medical Center Groningen, and Department of Internal Medicine, Martini Hospital, Groningen, The Netherlands
    Am J Crit Care 18:180, 178-9. 2009
    ..The diagnosis of acute intermittent porphyria was confirmed by an elevated porphyrin concentration in the urine and the presence of an R167Q mutation ..
  32. ncbi Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study
    Ingemar Bylesjo
    Department of Family Medicine, University of Umea, Umea, Sweden
    Scand J Clin Lab Invest 69:612-8. 2009
    The objective of this study was to update the clinical issues of acute intermittent porphyria (AIP), as they have not been in focus for years, and to be aware of potentially associated disorders and social consequences...
  33. ncbi Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients
    C Delaby
    INSERM U773, Centre de Recherche Biomedicale Bichat Beaujon CRB3, Universite Denis Diderot, Paris Cedex 18, France
    J Intern Med 266:277-85. 2009
    b>Acute intermittent porphyria (AIP) is caused by a deficiency of hydroxymethylbilane synthase...
  34. pmc AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function
    Makiko Yasuda
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Mol Ther 18:17-22. 2010
    b>Acute intermittent porphyria (AIP), an autosomal dominant hepatic porphyria due to half-normal hydroxymethylbilane synthase (HMB-synthase) activity, is manifested by life-threatening acute neurological attacks that are precipitated by ..
  35. ncbi Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria
    X Schneider-Yin
    Clin Genet 69:284-6. 2006
  36. ncbi Insertion of Alu element responsible for acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Hum Mutat 13:431-8. 1999
    ..Alu element interferes with the coding region of the porphobilinogen deaminase (PBGD) gene resulting in acute intermittent porphyria (AIP)...
  37. ncbi [Acute porphyrias: problem of primary diagnosis in Russia and CIS countries]
    I V Karpova
    Ter Arkh 79:52-6. 2007
    ..To analyse manifestations and experience in primary screening diagnosis of acute porphyrias which are rarely encountered and little known by general practitioners...
  38. ncbi Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery
    Annika Johansson
    Porphyria Centre Sweden, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden
    Mol Cell Biochem 250:65-71. 2003
    Porphobilinogen deaminase (PBGD), the third enzyme in the biosynthesis of heme, is deficient in acute intermittent porphyria (AIP). AIP is a genetic disease characterized by neurovisceral and psychiatric disturbances...
  39. ncbi A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family
    E Flachsova
    Department of Pediatrics and Center for Integrated Genomics, Charles University in Prague, 1st Faculty of Medicine, Prague, Czech Republic
    Folia Biol (Praha) 53:194-201. 2007
    ..It is, therefore, important that diseaseoriented Internet pages for public use should be designed with clarity and accurate current knowledge based background...
  40. ncbi Molecular characterization of porphyrias in Italy: a diagnostic flow-chart
    F Martinez di Montemuros
    Dipartimento di Medicina Interna, University of Milan, Ospedale Maggiore Policlinico IRCCS, Via F Sforza 35, 20122 Milan, Italy
    Cell Mol Biol (Noisy-le-grand) 48:867-76. 2002
    ..us to identify the molecular defect underlying the disease in 66 probands with different porphyrias [acute intermittent porphyria (AIP), variegate porphyria (VP), porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP)]...
  41. ncbi Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
    Xiaoye Schneider-Yin
    Zentrallabor, Stadtspital Triemli, Zurich, Switzerland
    Mol Genet Metab 94:343-6. 2008
    b>Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene...
  42. ncbi HMBS mutations in Chinese patients with acute intermittent porphyria
    C C Yang
    Department of Neurology, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan
    Ann Hum Genet 72:683-6. 2008
    b>Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis...
  43. ncbi Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria
    Lorcan Sheppard
    Department of Anaesthesia, Sheffield Children s Hospital, Western Bank, Sheffield, UK
    Paediatr Anaesth 15:426-8. 2005
    We report a case history of the anesthetic management of a child with a severe form of acute intermittent porphyria (AIP)...
  44. ncbi Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase
    J Brøns-Poulsen
    DakoCytomation Norden A S, Glostrup, Denmark
    Scand J Clin Lab Invest 65:93-105. 2005
    Defects in the enzyme porphobilinogen deaminase (PBG-D) are associated with acute intermittent porphyria (AIP). Human PBG-D is transcribed into a housekeeping or an erythroid form as a result of differential promoter usage and splicing...
  45. ncbi Porphobilmogen deaminase gene mutations in Brazilian acute intermittent porphyria patients
    Georgina Severo Ribeiro
    Department of Pathology, Federal Fluminense University, Rio de Janeiro, Brazil
    J Clin Lab Anal 16:259-65. 2002
    b>Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency...
  46. ncbi Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells
    A Johansson
    Porphyria Centre Sweden, Department of Medical Laboratory Sciences and Technology, Karolinska Institute, Huddinge University Hospital, Stockholm
    Scand J Clin Lab Invest 62:105-13. 2002
    b>Acute intermittent porphyria (AIP) is an inborn error of heme synthesis in which the third enzyme, porphobilinogen deaminase (PBGD), is deficient...
  47. ncbi Safe usage of isotretinoin in a woman with latent acute intermittent porphyria
    Elin Storjord
    Acta Derm Venereol 87:267-8. 2007
  48. ncbi Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment
    Hung Chou Kuo
    Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, University, Taipei, Taiwan
    J Neurol Sci 260:231-5. 2007
    We report a patient with acute intermittent porphyria who presented with progressive motor neuropathy, particularly in the upper limbs...
  49. ncbi Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion
    Eliane Sardh
    Department of Internal Medicine, Karolinska Institute, Stockholm Soder Hospital, Stockholm, Sweden
    Clin Pharmacokinet 46:335-49. 2007
    b>Acute intermittent porphyria is an autosomal dominant disorder caused by deficient activity of the third enzyme in the haem biosynthetic pathway, porphobilinogen deaminase...
  50. ncbi Familial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria
    Pavel Varsik
    1st Department of Neurology Medical School, Comenius University, Bratislava, Slovak Republic
    Neuro Endocrinol Lett 26:7-12. 2005
    ..Familial occurrence of ME syndrome and acute intermittent porphyria (AIP) was observed in three siblings...
  51. ncbi Gene symbol: HMBS. Disease: porphyria, acute intermittent
    E Di Pierro
    Department of Internal Medicine, University of Milan, Centro Anemie Congenite Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
    Hum Genet 119:359. 2006
  52. ncbi Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene
    P Poblete-Gutierrez
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Physiol Res 55:S137-44. 2006
    ..it was reported that the so-called Chester porphyria shows features of both variegate porphyria and acute intermittent porphyria. Linkage analysis revealed a novel chromosomal locus on chromosome 11 for the underlying genetic defect ..
  53. ncbi Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria
    Mikael von und zu Fraunberg
    Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Medicine (Baltimore) 84:35-47. 2005
    b>Acute intermittent porphyria (AIP), resulting from a deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis, is genetically heterogeneous and manifests with variable penetrance...
  54. ncbi [A family of acute intermittent porphyria]
    Masaki Igarashi
    Division of Hematology, NTT Kanto Medical Center
    Rinsho Ketsueki 45:562-7. 2004
    ..His family history of acute intermittent porphyria (AIP) suggested that it arose from acute porphyria...
  55. ncbi Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria
    Annika Johansson
    Porphyria Centre Sweden, Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, 141 86 Stockholm, Sweden
    Mol Ther 10:337-43. 2004
    The aim of this study was to investigate the potential of gene therapy in the treatment of acute intermittent porphyria (AIP), a disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in heme ..
  56. pmc Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement
    Annika Johansson
    Porphyria Centre Sweden, Department of Laboratory Medicine, Division of Clinical Chemistry, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden
    Mol Med 9:193-9. 2003
    b>Acute intermittent porphyria (AIP) is a genetic disorder caused by a deficiency of porphobilinogen deaminase (PBGD), the 3rd enzyme in heme synthesis...
  57. ncbi Pro-oxidant and antioxidant factors in acute intermittent porphyria: family studies
    E Rocchi
    Post Critical Care Unit, Department of Medicines and Medical Specialities, University of Modena and Reggio Emilia, Modena, Italy
    J Inherit Metab Dis 27:251-66. 2004
    ..Four unrelated patients with acute intermittent porphyria (AIP) were studied together with 37 members of four different families...
  58. ncbi Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria
    Annika Johansson
    Porphyria Centre Sweden, Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, Stockholm 141 86, Sweden
    Mol Genet Metab 82:20-6. 2004
    b>Acute intermittent porphyria (AIP), an inborn error of metabolism, results from the deficient activity of the third enzyme in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD)...
  59. ncbi Gene symbol: HMBS. Disease: Acute intermittent porphyria
    C S Solis
    Servicio de Bioquimica, Hospital Universitario La Paz, Madrid, Spain
    Hum Genet 114:402. 2004
  60. ncbi Molecular analysis of acute intermittent porphyria: mutation screening in 20 patients in Germany reveals 11 novel mutations
    Léon von Brasch
    Division of Hematology Oncology, Charite University Hospital, Humboldt University, Berlin, Germany
    Blood Cells Mol Dis 32:309-14. 2004
    b>Acute intermittent porphyria (AIP) is a very rare autosomal dominant disorder with low penetrance...
  61. ncbi De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study
    D Ulbrichova
    Department of Pediatrics, Charles University, First School of Medicine, Praque, Czech Republic
    Physiol Res 55:S145-54. 2006
    ..b>Acute intermittent porphyria (AIP), caused by partial deficiency of the porphobilinogen deaminase (PBGD), is the most frequent among ..
  62. ncbi Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors
    J Hessels
    Clinical Laboratory, Ziekenhuisgroep Twente, Streekziekenhuis Midden Twente, Hengelo, The Netherlands
    J Inherit Metab Dis 27:19-27. 2004
    ..This pattern of porphyrin precursor and metabolite excretion is characteristic of acute intermittent porphyria. The decreased copro(III)/copro(I+III) ratio, normally not found in acute intermittent porphyria, is ..
  63. ncbi Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
    Y Floderus
    Porphyria Centre Sweden, Huddinge University Hospital, Stockholm, Sweden
    Clin Genet 62:288-97. 2002
    b>Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficit of porphobilinogen deaminase (PBGD), the third of eight enzymes in the haem biosynthetic pathway...
  64. ncbi Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles
    G Lundin
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 93:59-62. 1994
    b>Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families...
  65. pmc Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria
    J S Lee
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Proc Natl Acad Sci U S A 88:10912-5. 1991
    b>Acute intermittent porphyria (AIP) is a metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase (PBGD, EC 4.3.1.8) activity...
  66. ncbi Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation
    A De Siervi
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Am J Med Genet 86:366-75. 1999
    b>Acute intermittent porphyria (AIP), the most common hepatic porphyria, results from the half-normal activity of hydroxymethylbilane synthase (HMB-synthase; EC 4.3.1.8), the third enzyme in the heme biosynthetic pathway...
  67. ncbi Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Hum Genet 102:541-8. 1998
    ..in the porphobilinogen deaminase (PBGD) gene were identified in six unrelated Finnish patients with acute intermittent porphyria (AIP)...
  68. ncbi Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
    R L Lindberg
    Department of Pharmacology, University of Basel, Switzerland
    Nat Genet 12:195-9. 1996
    b>Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD)...
  69. ncbi Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase
    D H Llewellyn
    Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Hum Mol Genet 2:1315-6. 1993
  70. ncbi Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms
    A M Robreau-Fraolini
    Centre Francais des Porphyries, INSERM Unité 409, Faculte X Bichat, Hopital Louis Mourier, Colombes, France
    Hum Genet 107:150-9. 2000
    b>Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase (PBGD) or hydroxymethylbilane synthase (HMBS) gene...
  71. ncbi CRIM-positive mutations of acute intermittent porphyria in Finland
    R Kauppinen
    Third Department of Medicine, University Central Hospital of Helsinki, Finland
    Hum Mutat 1:392-6. 1992
    b>Acute intermittent porphyria (AIP) is a dominantly inherited metabolic disease caused by a partial deficiency of the third enzyme, porphobilinogen deaminase (PBGD), in the heme biosynthetic pathway...
  72. ncbi Identification of five novel mutations in the porphobilinogen deaminase gene
    C S Mgone
    Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK
    Hum Mol Genet 3:809-11. 1994
    ..deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria. This was achieved by reverse transcription and PCR amplification of mRNA followed by asymmetric ..
  73. ncbi Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene
    K H Astrin
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029
    Hum Mutat 4:243-52. 1994
    b>Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase)...
  74. ncbi Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene
    R B Ramdall
    Departments of Human Genetic, Mount Sinai School of Medicine, New York, New York 10029, USA
    Genet Med 2:290-5. 2000
    To identify mutations in families with acute intermittent porphyria, an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane ..
  75. ncbi [Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia]
    V L Surin
    Hematological Research Center of Medicine, Russian Academy of Medical Science, Moscow, 125167 Russia
    Genetika 37:690-7. 2001
    ..Defects in the PBGD gene lead to an autosomal dominant disease, acute intermittent porphyria (AIP). Almost all AIP patients with rare exceptions are heterozygous for the defective gene...
  76. ncbi Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations
    S D Whatley
    Department of Medical Biochemistry, University Hospital of Wales NHS Healthcare Trust, University of Wales College of Medicine, Cardiff, UK
    Hum Genet 104:505-10. 1999
    b>Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene...
  77. ncbi Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping
    M Daimon
    Third Department of Internal Medicine, Yamagata University School of Medicine, Japan
    Hum Genet 92:549-53. 1993
    Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method...
  78. ncbi Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    C S Mgone
    Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK
    Hum Genet 92:619-22. 1993
    ..transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the ..
  79. ncbi Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria
    X F Gu
    Laboratoire de Genetique Moleculaire, Faculte Xavier Bichat, Paris, France
    Hum Mol Genet 2:1735-6. 1993
  80. ncbi Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
    S D Whatley
    Department of Medical Biochemistry, University Hospital of Wales and Llandough Hospital NHS Trust and University of Wales College of Medicine, Cardiff, UK
    Hum Genet 107:243-8. 2000
    b>Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by mutations in the HMBS gene...
  81. ncbi Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria
    H Puy
    Centre Francais des Porphyries, INSERM U409, Hopital Louis Mourier, Colombes, France
    Hum Genet 103:570-5. 1998
    b>Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial defect of the heme biosynthesis enzyme, porphobilinogen deaminase (PBGD)...
  82. ncbi Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria
    Anita Gregor
    Porphyria Center, Institute of Hematology and Blood Transfusion, Warsaw, Poland
    Hum Mutat 19:310. 2002
    b>Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene...
  83. ncbi Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy
    F Martinez di Montemuros
    Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS Dipartimento di Medicina Interna, University of Milan, Milan, Italy
    Blood Cells Mol Dis 27:961-70. 2001
    b>Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway...
  84. ncbi Porphyrias in Japan: compilation of all cases reported through 2002
    Masao Kondo
    Division of Applied Nutrition, National Institute of Health and Nutrition, Tokyo, Japan
    Int J Hematol 79:448-56. 2004
    ..In contrast, preponderances of female patients exist with acute hepatic porphyrias, such as acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP), and with undefined acute ..
  85. ncbi [Porphyrias]
    U Stölzel
    Klinik fur Innere Medizin II, Porphyrie Zentrum Sachsen, Klinikum Chemnitz gGmbH, Chemnitz, Germany
    Internist (Berl) 51:1525-33; quiz 1534. 2010
    ..b>Acute intermittent porphyria, Variegate porphyria, Hereditary coproporphyria and Doss porphyria belong to this group of metabolic ..
  86. ncbi Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands
    F W M de Rooij
    Section Vascular and Metabolic Diseases, Dept of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    Cell Mol Biol (Noisy-le-grand) 55:64-9. 2009
    b>Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant inborn disorder of heme biosynthesis caused by mutations in the porphobilinogen deaminase (PBGd) gene...
  87. ncbi Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene
    Sharon D Whatley
    Department of Medical Biochemistry and Immunology, University Hospital of Wales and School of Medicine, Cardiff University, Cardiff, UK
    Clin Chem 55:1406-14. 2009
    Clinically indistinguishable attacks of acute porphyria occur in acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). There are few evidence-based diagnostic strategies for these disorders.
  88. ncbi [Hepatic porphyrias and alcohol]
    M O Doss
    Abteilung für Klinische Biochemie, Klinikum der Philipps Universität Marburg Lahn
    Med Klin (Munich) 94:314-28. 1999
    ..as lead to a biochemical and clinical manifestation of acute and chronic hepatic porphyrias, especially acute intermittent porphyria and porphyria cutanea tarda...
  89. ncbi [Oxidative stress in porphyria and carriers]
    Masahito Aminaka
    Department of Preventive Medicine, St Marianna University School of Medicine, Kawasaki, Japan
    Nihon Eiseigaku Zasshi 63:628-35. 2008
    ..We sought to establish a causal relationship between oxidative stress and porphyria in patients and carriers. We reported changes in urinary porphyrin concentrations related to 8-hydroxy-2'-deoxyguanosine...
  90. ncbi Porphyria in Switzerland, 15 years experience
    Xiaoye Schneider-Yin
    Central Laboratory, Stadtspital Triemli, Zurich, Switzerland
    Swiss Med Wkly 139:198-206. 2009
    ..All porphyrias, except for sporadic porphyria cutanea tarda (sPCT), are hereditary disorders caused by mutations in the respective genes. We present porphyria cases documented in our porphyria centre during the past 15 years...
  91. ncbi Plasma porphyrins in the porphyrias
    J T Hindmarsh
    Division of Biochemistry, Ottawa Hospital, General Campus, 501 Smyth Rd, Ottawa, Ontario, Canada K1H 8L6
    Clin Chem 45:1070-6. 1999
    ..As an aid in the diagnosis and management of porphyria we have developed a method to fractionate and quantify plasma porphyrins and have evaluated its use in various porphyrias...
  92. ncbi Liver transplantation for porphyria: who, when, and how?
    Avnish Kumar Seth
    Liver and Hepatobiliary Unit, Queen Elizabeth Hospital, Birmingham, United Kingdom
    Liver Transpl 13:1219-27. 2007
    ..In acute intermittent porphyria, the clinical features, particularly neurological symptoms, may be life-threatening and disabling...
  93. ncbi Rapid quantitative method using spin columns to measure porphobilinogen in urine
    Mikhail Roshal
    Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA
    Clin Chem 54:429-31. 2008
    Large increases of urinary porphobilinogen (PBG) indicate acute porphyria, which may be due to acute intermittent porphyria, variegate porphyria, or hereditary coproporphyria...
  94. ncbi Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria
    Pauline Harper
    Pauline Harper, MD, PhD Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm SE 141 86, Sweden
    Curr Treat Options Gastroenterol 10:444-55. 2007
    ..There are four acute porphyrias characterized by neuropsychiatric symptoms: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolevulinic acid dehydratase deficiency ..
  95. pmc Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    Mol Med 16:381-8. 2010
    ..mean wild-type activity, confirming the diagnosis and distinguishing it from feline phenocopies having acute intermittent porphyria. Sequencing of the affected cat's UROS gene revealed two missense mutations, c.140C>T (p...
  96. ncbi A reappraisal of the possible seizures of Vincent van Gogh
    John R Hughes
    Department of Neurology, University of Illinois at Chicago, Chicago, IL 60612, USA
    Epilepsy Behav 6:504-10. 2005
    ..Possible physical diagnoses include glaucoma, Meniere's disease, acute intermittent porphyria, and chronic lead poisoning, but these diagnoses seem unlikely...
  97. ncbi The acute hepatic porphyrias: current status and future challenges
    Marko Siegesmund
    Department of Dermatology, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
    Best Pract Res Clin Gastroenterol 24:593-605. 2010
    ..The acute hepatic porphyrias comprise acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase deficiency ..
  98. ncbi Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria
    M Mendez
    Research Center Hospital Universitario 12 de Octubre, Madrid, Spain
    Cell Mol Biol (Noisy-le-grand) 55:55-63. 2009
    b>Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant disorder with low penetrance that results from a partial deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme in the heme ..
  99. ncbi Plasma cardiac necrosis markers C-troponin I and creatine kinase, associated with increased malondialdehyde levels, induced in rabbits by means of 5-aminolevulinic acid injection
    Arnaldo Pinelli
    Dipartimento di Farmacologia, Universita di Milano, IT 20129 Milano, Italia
    Pharmacology 84:314-21. 2009
    ..high levels of 5-aminolevulinic acid in cases of heart damage due to acute myocardial infarction, acute intermittent porphyria or chronic kidney failure, but it is not known whether the heart damage is directly associated with 5-..
  100. ncbi [Anesthesia and hepatic porphyria]
    Y Blanloeil
    Departement d Anesthesie Reanimation, Hopital Laennec, CHU, Nantes
    Ann Fr Anesth Reanim 8:109-25. 1989
    Three of the acute hepatic porphyrias, acute intermittent porphyria, variegata porphyria and hereditary coproporphyria, are characterized by an idiosyncratic reaction to many common drugs; the resulting excessive excretion of porphyrin ..
  101. ncbi Dual porphyria with mutations in both the UROD and HMBS genes
    James R Harraway
    Molecular Pathology, Canterbury Health Laboratories, P O Box 151, Christchurch, New Zealand
    Ann Clin Biochem 43:80-2. 2006
    ..was not supported by analysis of her plasma, urine and faeces, which suggested a combination of acute intermittent porphyria and porphyria cutanea tarda...

Research Grants11

  1. Acute Hepatic Porphyrias: Pathogenesis &Treatment
    Makiko Yasuda; Fiscal Year: 2013
    ..research are: 1) to investigate the pathogenesis of the life-threatening acute neurological attacks in Acute Intermittent Porphyria (AIP), the most common hepatic porphyria [due to deficient activity of hydroxymethylbilane synthase (..
  2. Effect of Heme on mRNA and miRNA Profiles
    Herbert L Bonkovsky; Fiscal Year: 2013
    ..Hydroxymethylbilane synthase [HMBS], the third enzyme of the heme biosynthetic pathway, is deficient in acute intermittent porphyria, the most severe of the acute porphyrias...
  3. PORPHYRIA AND HUMAN HEME BIOSYNTHESIS
    Robert J Desnick; Fiscal Year: 2010
    ..proposed research are to investigate the biochemistry, molecular pathology, and potential therapy of acute intermittent porphyria (AIP), an autosomal dominant hepatic porphyria due to the half-normal activity of hydroxymethylbilane ..
  4. The role of GABA-mimetic metabolites in neurodevelopmental and neuropsychiatric d
    Joseph A Gogos; Fiscal Year: 2013
    ..to accumulate in two other human neuropsychiatric diseases: -aminolevulinic acid, which accumulates in acute intermittent porphyria, a disease associated with psychosis and seizures, and L-pipecolic acid, which accumulates in ..
  5. Phase 2 Study of Hemin for Treatment and Prevention of Porphyria Attacks
    KARL ELMO ANDERSON; Fiscal Year: 2013
    ..Its approval in 1971 for the amelioration of acute attacks of acute intermittent porphyria was based on published reports of biochemical efficacy and evident benefit in numerous individual cases ..
  6. PORPHYRIN AND CORRINOID BIOSYNTHESIS
    Alastair Scott; Fiscal Year: 2006
    ..and genetic mapping will define intermediates important in diseases such as B12 deficiency and acute intermittent porphyria. All of the biosynthetic enzymes necessary for the formation of cobyrinic acid, the simplest B12 analog,..
  7. REGULATION OF HEPATIC HEME METABOLISM
    HERBERT BONKOVSKY; Fiscal Year: 2009
    ..the molecular mechanisms that mediate heme regulation of ALAS-1 and HO-1 are similar in avian, human, and murine hepatocytes in culture or in intact organisms. ..
  8. Aberrant VEGF RNA Stability in Amyotrophic Lateral Sclerosis
    Peter King; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  9. CLINICAL RESEARCH EDUCATION PROGRAM AT UTMB
    Karl Anderson; Fiscal Year: 2004
    ..We also hope that our program will, like the GCRC-CREO Curriculum component, become a model for other institutions that plan to develop their research education programs at all training levels. ..